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Cyp27a1
Gene Detail
 Symbol
Name
ID
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
MGI:88594
Synonyms 1300013A03Rik, cholesterol 27 hydroxylase, Cyp27
Feature Type protein coding gene
Genetic Map
Chromosome 1
38.54 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr1:74713574-74737890 bp, + strand
From NCBI annotation of GRCm38

  24317 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:36040  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 4 zebrafish

Gene Tree: Cyp27a1

Human
homologs
Human Homolog CYP27A1, cytochrome P450, family 27, subfamily A, polypeptide 1
NCBI Gene ID 1593
neXtProt AC  NX_Q02318
Human Synonyms  CP27, CTX, CYP27
Human Chr (Location)  2q35; chr2:218781749-218815293 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human CYP27A1
Alleles
and
phenotypes
All alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit signifcantly reduced production of bile acids, up-regulation of cholesterol 7alpha-hydroxylase, increased circulating levels of 7alpha-hydroxycholesterol, and somewhat higher serum 25-hydroxyvitamin D levels.
 
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process calcitriol biosynthetic process from calciol, cholesterol metabolic process, ...
Component membrane, mitochondrial envelope, ...
Function cholestanetriol 26-monooxygenase activity, cholesterol 26-hydroxylase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (56)    Tissues (42)    Images (13)
Theiler Stages: 4, 10, 18, 19, 23, 25, 28
Assay TypeResults
RNA in situ 42
RT-PCR 14
cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(68) Genomic(4) cDNA(61) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000026170 (Evidence)
Entrez Gene104086 (Evidence)
UniGene85083
DFCITC1579146
DoTSDT.488179, DT.91334831
NIA Mouse Gene IndexU000459
EC1.14.13.15
Consensus CDS ProjectCCDS15054.1
International Mouse Knockout Project StatusCyp27a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 104086 NCBI Gene Model | MGI Sequence Detail 24317 C57BL/6J ±  kb
transcript NM_024264 RefSeq | MGI Sequence Detail 1890 C57BL/6 
polypeptide Q9DBG1 UniProt | EBI | MGI Sequence Detail 533 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(124 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001128 Cytochrome P450
InterPro IPR017972 Cytochrome P450, conserved site
InterPro IPR002401 Cytochrome P450, E-class, group I
Protein Ontology PR:000006110 cytochrome P450 27, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:35016 Cali JJ, et al., Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem. 1991 Apr 25;266(12):7774-8
(Latest) J:199245 Vergnes L, et al., Diet1 functions in the FGF15/19 enterohepatic signaling axis to modulate bile acid and lipid levels. Cell Metab. 2013 Jun 4;17(6):916-28
All references(62)
Other
accession IDs
MGD-MRK-2311, MGI:1922018

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory